Status:
RECRUITING
The Myelin Disorders Biorepository Project
Lead Sponsor:
Children's Hospital of Philadelphia
Collaborating Sponsors:
National Institutes of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Leukodystrophy
White Matter Disease
Eligibility:
All Genders
Brief Summary
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projec...
Detailed Description
Genetic white matter disorders (leukodystrophies) are estimated to have an incidence of approximately 1:7000 live births. In the past, patients with white matter disease of unknown cause evaluated by ...
Eligibility Criteria
Inclusion Criteria (Affected Subjects):
- Male or female of any age;
- Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;
- Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;
- Willingness to provide clinical data, participate in standardized assessments, and/or provide biologic samples.
Exclusion Criteria (Affected Subjects)
- Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;
- Inability to provide consent.
Inclusion Criteria (Healthy Controls)
- Male or female of any age;
- Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);
- Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.
Exclusion Criteria (Healthy Controls)
- Inability to provide consent.
Key Trial Info
Start Date :
December 8 2016
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 8 2030
Estimated Enrollment :
12000 Patients enrolled
Trial Details
Trial ID
NCT03047369
Start Date
December 8 2016
End Date
December 8 2030
Last Update
October 23 2025
Active Locations (23)
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1
Children's Hospital of Los Angeles
Los Angeles, California, United States, 90027
2
Children's Hospital of Orange County
Orange, California, United States, 92868
3
Stanford University (Lucile Packard Children's Hospital)
Palo Alto, California, United States, 94304
4
University of California, Davis (UC Davis Health)
Sacramento, California, United States, 95817